Canonical Allele Identifier: CA405419134

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36220968T>C (hg19) ; chr19:g.35730067T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730067T>C , CM000681.2:g.35730067T>C	GRCh38
NC_000019.9:g.36220968T>C , CM000681.1:g.36220968T>C	GRCh37
NC_000019.8:g.40912808T>C	NCBI36
NG_052906.1:g.17049T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673918.2:c.4952T>C	ENSP00000501283.1:p.Ile1651Thr
ENST00000674114.2:c.2559T>C	ENSP00000501039.2:n.2559T>C
ENST00000684977.1:c.236T>C	ENSP00000509384.1:p.Ile79Thr
ENST00000685168.1:c.444T>C
ENST00000689544.1:n.171T>C
ENST00000691421.1:c.239T>C	ENSP00000508674.1:p.Ile80Thr
ENST00000691855.1:c.4560T>C
ENST00000692961.1:c.5018T>C	ENSP00000509289.1:p.Ile1673Thr
ENST00000420124.4:c.5018T>C MANE Select	ENSP00000398837.2:p.Ile1673Thr
ENST00000673918.1:c.4952T>C	ENSP00000501283.1:p.Ile1651Thr
ENST00000674114.1:c.2340T>C
ENST00000420124.2:c.5018T>C	ENSP00000398837.1:p.Ile1673Thr
NM_014727.2:c.5018T>C	NP_055542.1:p.Ile1673Thr
XM_011527561.1:c.4952T>C	XP_011525863.1:p.Ile1651Thr
XM_011527562.1:c.5018T>C	XP_011525864.1:p.Ile1673Thr
XM_011527563.1:c.4742T>C	XP_011525865.1:p.Ile1581Thr
XM_011527561.2:c.4454T>C	XP_011525863.2:p.Ile1485Thr
XM_011527562.2:c.5018T>C	XP_011525864.1:p.Ile1673Thr
XM_017027544.1:c.5018T>C	XP_016883033.1:p.Ile1673Thr
XM_017027545.1:c.4454T>C	XP_016883034.1:p.Ile1485Thr
XM_017027546.1:c.1982T>C	XP_016883035.1:p.Ile661Thr
NM_014727.3:c.5018T>C MANE Select	NP_055542.1:p.Ile1673Thr